Individual ID | 29694806.03 |
---|---|
Pubmed ID | 29694806 |
Whose mosaic mutation | Father |
Phenotypic Category | 2 |
Number of affected children | 2 |
Disease | Dravet syndrome(view all the variants in this disease) |
OMIM ID | 607208 |
Found 1 variant in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
30175 | 6323 | SCN1A | 2 | 166854574 | 166854574 | Dravet syndrome | smMIP |